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rs17261572

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs17261572(T;T)
ReferenceGRCh38 38.1/141
ChromosomeX
Position120626774
GeneC1GALT1C1
is asnp
is mentioned by
dbSNPrs17261572
ebirs17261572
HLIrs17261572
Exacrs17261572
Varsomers17261572
Maprs17261572
PheGenIrs17261572
hapmaprs17261572
1000 genomesrs17261572
hgdprs17261572
ensemblrs17261572
gopubmedrs17261572
geneviewrs17261572
scholarrs17261572
googlers17261572
pharmgkbrs17261572
gwascentralrs17261572
openSNPrs17261572
23andMers17261572
23andMe allrs17261572
SNP Nexus

SNPshotrs17261572
SNPdbers17261572
MSV3drs17261572
GWAS Ctlgrs17261572
GMAF0.1312
Max Magnitude0
? (A;A) (A;T) (T;T) 28
OMIM300611
Desc
Variant0002
Relatedalso


ClinVar
Risk rs17261572(T;T)
Alt rs17261572(T;T)
Reference rs17261572(A;A)
Significance Pathogenic
Disease Polyagglutinable erythrocyte syndrome
Variation info
Gene C1GALT1C1
CLNDBN Polyagglutinable erythrocyte syndrome
Reversed 0
HGVS NC_000023.10:g.119760629A>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000011539.4,



[PMID 18840896] No evidence for a role of cosmc-chaperone mutations in European IgA nephropathy patients.


GET Evidence
C1GALT1C1-D131E
aa_change Asp131Glu
aa_change_short D131E
impact benign
qualified_impact Insufficiently evaluated benign
overall_frequency 0.159036
summary This variant is likely a benign polymorphism. Also found in one individual with Tn syndrome.